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Efficiently querying genomic intervals is fundamental to modern bioinformatics, enabling researchers to extract and analyze specific regions from large genomic datasets. While various tools have been developed for this purpose, there lacks a comprehensive comparison of their performance, memory usage, and practical utility. We present a systematic evaluation of genomic interval query tools using simulated datasets of varying sizes. Our benchmarking framework, segmeter, assesses both basic and complex interval queries, examining runtime performance, memory efficiency, and query precision across different tools. This comprehensive analysis provides insights into the strengths and limitations of different approaches to genomic interval querying, offering guidance for tool selection based on specific use cases and data requirements. The segmeter framework and all benchmark data are freely available, facilitating reproducibility and enabling researchers to conduct their own comparative analyses.
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http://dx.doi.org/10.1093/bib/bbaf379 | DOI Listing |
J Thorac Oncol
September 2025
Institut du Thorax Curie-Montsouris, Paris, France; Paris-Saclay University, UVSQ-Versailles, France.
Introduction: Amivantamab plus lazertinib significantly improved progression-free and overall survival versus osimertinib in patients with previously untreated, EGFR-mutant advanced NSCLC. EGFR-targeted therapies are associated with dermatologic adverse events (AEs), which can affect quality of life (QoL). COCOON was conducted to assess prophylactic management and improve treatment experience.
View Article and Find Full Text PDFCancer Biol Med
September 2025
State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers, Peking University Cancer Hospital & Institute, Beijing 100142, China.
Objective: The key molecular events signifying the -induced gastric carcinogenesis process are largely unknown.
Methods: Bulk tissue-proteomics profiling were leveraged across multi-stage gastric lesions from Linqu ( = 166) and Beijing sets ( = 99) and single-cell transcriptomic profiling ( = 18) to decipher key molecular signatures of -related gastric lesion progression and gastric cancer (GC) development. The association of key proteins association with gastric lesion progression and GC development were prospectively studied building on follow-up of the Linqu set and UK Biobank ( = 48,529).
Lancet Reg Health West Pac
August 2025
Global HIV, Hepatitis and STI Programmes, World Health Organization (WHO), Geneva, Switzerland.
Background: The global spread of antimicrobial resistance (AMR) in threatens empiric single-dose gonorrhoea treatment. Enhanced global AMR surveillance is imperative. We report i) gonococcal antimicrobial susceptibility and resistance data from 2023 in the World Health Organization Enhanced Gonococcal Antimicrobial Surveillance Programme (WHO EGASP) in the WHO Western Pacific Region (Cambodia, the Philippines, Viet Nam), Southeast Asian Region (Indonesia, Thailand), and African Region (Malawi, South Africa, Uganda, Zimbabwe), and ii) metadata of the gonorrhoea patients.
View Article and Find Full Text PDFArch Esp Urol
August 2025
Department of Urology, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi Medical Center, Nanjing Medical University, 214000 Wuxi, Jiangsu, China.
Background: A plethora of studies have demonstrated that the level of uric acid (UA) and gout are the risk factors for erectile dysfunction (ED). However, the causal effect of UA level and gout on ED is still unclear. This Mendelian randomization (MR) study aims to examine the bidirectional causality between ED and UA levels as well as gout.
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Internal Medicine, The First Affiliated Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi, China.
Coronary artery atherosclerosis (CAA) stands as a prominent etiological contributor to global cardiovascular morbidity and mortality. Its pathogenesis entails intricate interplays among genetic predisposition, environmental factors, and lifestyle determinants. Trace elements, though necessitated in minuscule quantities, have emerged as potential modulators of CAA progression, yet their exact impact remains unclear.
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